- •We found the splice-site mutation c.3244-2A>C results in aberrant transcripts.
- •The patient carrying c.3244-2A>C show more severe clinical manifestations.
- •These findings reveal important implications of aberrant transcripts in WD phenotype.
This study aimed to identify aberrant transcripts of the new splice-site mutation c.3244-2A>C in the Wilson disease (WD) gene (ATPase, Cu++ transporting, beta polypeptide, ATP7B) and discuss its genotype and clinical phenotype. DNA and RNA were extracted from peripheral blood lymphocytes, amplified by polymerase chain reaction (PCR) and nested reverse transcription PCR (RT-nested PCR) to characterize the aberrant transcripts. RT-nested PCR product sequencing comparison showed that c.3244-2A>C splice-site mutation caused aberrant transcripts and formatted a new splice acceptor. Patient carrying the splice-site mutation c.3244-2A>C presented early onset age, severe clinical manifestations, and poor prognosis. WD patients with the splice-site mutation show severe clinical manifestations, indicating that aberrant transcripts have important implications for WD phenotype.
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Published online: July 21, 2014
Accepted: July 14, 2014
Received in revised form: June 14, 2014
Received: April 22, 2014
© 2014 Elsevier B.V. Published by Elsevier Inc. All rights reserved.